A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211757



Internal ID22359217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55637630..55642543hg38UCSC Ensembl
Outerchr12:56031414..56036327hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384914
hg194914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254779, nssv14254780
SamplesNA19239, NA19240
Known GenesOR10P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211757
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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